Canonical Allele Identifier: CA1433068571

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002051C= , CM000666.2:g.1002051C=	GRCh38
NC_000004.11:g.995839C= , CM000666.1:g.995839C=	GRCh37
NC_000004.10:g.985839C=	NCBI36
NG_008103.1:g.20055C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.862C=	ENSP00000247933.4:p.Pro288=
ENST00000514224.2:c.862C= MANE Select	ENSP00000425081.2:p.Pro288=
ENST00000652070.1:n.918C=
ENST00000247933.8:c.862C=	ENSP00000247933.4:p.Pro288=
ENST00000514192.5:c.679C=	ENSP00000423685.1:p.Pro227=
ENST00000514224.1:c.466C=	ENSP00000425081.1:p.Pro156=
ENST00000514698.5:n.862C=
NM_000203.4:c.862C=	NP_000194.2:p.Pro288=
NR_110313.1:n.950C=
XM_006713882.2:c.466C=	XP_006713945.1:p.Pro156=
XM_011513459.1:c.821C=	XP_011511761.1:p.Pro274=
XM_011513460.1:c.721C=	XP_011511762.1:p.Pro241=
XM_011513461.1:c.655C=	XP_011511763.1:p.Pro219=
XM_011513462.1:c.574C=	XP_011511764.1:p.Pro192=
XM_011513463.1:c.574C=	XP_011511765.1:p.Pro192=
XR_924947.1:n.931C=
NM_000203.5:c.862C= MANE Select	NP_000194.2:p.Pro288=
NM_001363576.1:c.466C=	NP_001350505.1:p.Pro156=
XM_011513461.2:c.655C=	XP_011511763.1:p.Pro219=
XM_017008163.1:c.-99C=	XP_016863652.1:n.-99C=